Maria Ida Rizzo

Churg–Strauss syndrome

Churg-Strauss syndrome (CSS), alternatively known as eosinophilic granulomatosis with polyangiitis (EGPA), was first described in 1951 by Churg and Strauss as a rare disease characterized by disseminated necrotizing vasculitis with extravascular granulomas occurring exclusively among patients with asthma and tissue eosinophilia. EGPA is classified as a small-vessel vasculitis associated with antineutrophil cytoplasmic antibodies (ANCAs) and the hypereosinophilic syndromes (HESs) in which vessel inflammation and eosinophilic proliferation are thought to contribute to organ damage. Although still considered an idiopathic condition, EGPA is classically considered a Th2-mediated disease. Emerging clinical observations provide compelling evidence that ANCAs are primarily and directly involved in the pathogenesis of AASVs, although recent evidence implicates B cells and the humoral response as further contributors to EGPA pathogenesis. EGPA has traditionally been described as evolving through a prodromic phase characterized by asthma and rhino-sinusitis, an eosinophilic phase marked by peripheral eosinophilia and organ involvement, and a vasculitic phase with clinical manifestations due to small-vessel vasculitis. The American College of Rheumatology defined the classification criteria to distinguish the different types of vasculitides and identified six criteria for EGPA. When four or more of these criteria are met, vasculitis can be classified as EGPA. The French Vasculitis Study Group has identified five prognostic factors that make up the so-called five-factor score (FFS). Patients without poor prognosis factors (FFS=0) have better survival rates than patients with poor prognosis factors (FFS≥1). The treatment of patients with CSS must be tailored to individual patients according to the presence of poor prognostic factors. A combination of high-dose corticosteroids and cyclophosphamide is still the gold standard for the treatment of severe cases, but the use of biological agents such as rituximab or mepolizumab seems to be a promising therapeutic alternative.

Parkinson's disease: Autoimmunity and neuroinflammation

Parkinsons disease is a neurodegenerative disease that causes the death of dopaminergic neurons in the substantia nigra. The resulting dopamine deficiency in the basal ganglia leads to a movement disorder that is characterized by classical parkinsonian motor symptoms. Parkinsons disease is recognized as the most common neurodegenerative disorder after Alzheimers disease. PD ethiopathogenesis remains to be elucidated and has been connected to genetic, environmental and immunologic conditions. The past decade has provided evidence for a significant role of the immune system in PD pathogenesis, either through inflammation or an autoimmune response. Several autoantibodies directed at antigens associated with PD pathogenesis have been identified in PD patients. This immune activation may be the cause of, rather than a response to, the observed neuronal loss. Parkinsonian motor symptoms include bradykinesia, muscular rigidity and resting tremor. The non-motor features include olfactory dysfunction, cognitive impairment, psychiatric symptoms and autonomic dysfunction. Microscopically, the specific degeneration of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies, which are brain deposits containing a substantial amount of α-synuclein, have been recognized. The progression of Parkinsons disease is characterized by a worsening of motor features; however, as the disease progresses, there is an emergence of complications related to long-term symptomatic treatment. The available therapies for Parkinsons disease only treat the symptoms of the disease. A major goal of Parkinsons disease research is the development of disease-modifying drugs that slow or stop the neurodegenerative process. Drugs that enhance the intracerebral dopamine concentrations or stimulate dopamine receptors remain the mainstay treatment for motor symptoms. Immunomodulatory therapeutic strategies aiming to attenuate PD neurodegeneration have become an attractive option and warrant further investigation.

Goodpasture's syndrome: A clinical update

Goodpastures syndrome (GS) is a rare and organ-specific autoimmune disease that is mediated by anti-glomerular basement membrane (anti-GBM) antibodies and has pathology characterized by crescentic glomerulonephritis with linear immunofluorescent staining for IgG on the GBM. It typically presents as acute renal failure caused by a rapidly progressive glomerulonephritis, accompanied by pulmonary hemorrhage that may be life-threatening. It was first described as a distinctive syndrome by Pasture in 1919. Autoimmune Inner Ear Disease (AIED) may be associated. The etiology of GS is unknown. Researchers hypothesized a genetic predisposition HLA-associated. Complex immunological mechanisms are in the pathogenesis. The disease is caused by autoantibodies against the NC1 domain of the alpha 3 chain of type IV collagen. The limited presence of this molecule in the body explains the interest confined to specific target organs, such as the lung and kidney. It occurs when the immune system attacks the walls of the lungs and the tiny filtering units in the kidneys. Without prompt diagnosis and treatment, the disease can lead to bleeding in the lungs, kidney failure, and even death.

Kawasaki disease: An evolving paradigm

Kawasaki disease (KD) is a self-limited childhood systemic vasculitis that exhibits a specific predilection for the coronary arteries. KD predominantly affects young children between the ages of 6months and 4years. Incidence rates in Asians are up to 20 times higher than Caucasians. The aetiology of KD is not known. One reasonable open hypothesis is that KD is caused by an infectious agent that produces an autoimmune disease only in genetically predisposed individuals. The typical presentation of KD is a young child who has exhibited a high swinging fever for five or more days that persists despite antibiotic and/or antipyretic treatment. The lips are dry and cracked. There is a characteristic strawberry tongue, and a diffuse erythema of oropharyngeal mucosal surfaces. Lymphadenopathy is usually unilateral and confined to the anterior cervical triangle. Coronary aneurysms generally appear during the convalescence phase (beginning during the second week). The absence of any laboratory tests for KD means that the diagnosis is made by the presence of a constellation of clinical features. The aim of echocardiography is to assess the presence of coronary artery dilatation or aneurysm formation. Effective therapies exist for most patients with acute KD, but the exact mechanisms of action are not clear. Treatment with aspirin and intravenous immunoglobulins (IVIG) are first-line therapies. However, options are plentiful for the children who fail this treatment, but these treatments are not as beneficial. Some centres attempt to salvage resistant patients using intravenous pulsed doses of methylprednisolone. Other centres use infliximab or combinations of these approaches.

Microscopic polyangiitis: Advances in diagnostic and therapeutic approaches.

Microscopic polyangiitis (MPA) is an idiopathic autoimmune disease characterized by systemic vasculitis. The disease predominantly affects small-calibre blood vessels and is associated with the presence of antineutrophil cytoplasmic autoantibodies (ANCA). Microscopic polyangiitis was considered to be a disease entity by Savage et al. in 1985. Microscopic polyangiitis has a reported low incidence and a slight male predominance. The aetiology of MPA remains unknown. There is, however, increased evidence that MPA is an autoimmune disease in which ANCAs, particularly those reacting with MPO, are pathogenic. MPA belongs to the systemic vasculitides, indicating that multiple organs can be affected. The major organs involved in MPA are the kidneys and the lungs. As expected for an illness that affects multiple organ systems, patients with MPA can present with a myriad of different symptoms. Ear, nose and throat (ENT) manifestations are not considered to be clinical symptoms of MPA, but in the majority of populations described, ENT involvement was found in surprisingly high percentages. MPA is part of the ANCA-associated vasculitides, which are characterized by necrotizing vasculitis of small vessels. Diagnosis is mainly established by clinical manifestations, computed tomography (TC), ANCA antibody detection and renal and pulmonary biopsy. The introduction of aggressive immunosuppressive treatment has substantially improved the prognosis. The standardized therapeutic regimen is based on cyclophosphamide and corticosteroids. Using this regimen, remission can be achieved in most of the patients. Rituximab may represent an important alternative to cyclophosphamide for patients who may not respond adequately to antimetabolite therapies.

Minimally Invasive Combined Treatment for Parry-Romberg Syndrome

BackgroundFacial hemiatrophy, a typical manifestation of Parry-Romberg syndrome, produces massive face asymmetry, causing marked aesthetic damage and severe psychological discomfort, with repercussions to the psychophysical status of the patient. This article presents a successful combined treatment that results in resolution of symptoms and patient satisfaction.MethodsThe authors proposed a clinic-therapeutic management comprising a customized program of bio-lipo-intense pulsed light (IPL) remodeling.ResultsIn 2007, at a 1-year follow-up visit, the patient presented a stable result. She is satisfied with the augmentation treatment, the new volume and contours of the face, and the resolution of the sclerosis and ochrodermia.ConclusionThe authors have succeeded with a minimally invasive reconstructive technique for Romberg disease using a customized therapeutic program of poly-L-lactic acid, lipofilling, and IPL therapy. They report a case of good healing without recurrences and complications, with a good cosmetic result, and with satisfaction of the patient.

Optimal care for eyelid contraction after radiotherapy: case report and literature review.

Radiotherapy represents a major problem in facial surgery. Orbital and periorbital radiation therapy causes a contraction of the soft tissues. Scarring with ectropion is the most severe complication, with shrinking of the anterior lamella, skin dystrophy, muscle atrophy, and alteration of the remaining soft tissues. Goals for reconstruction include correction of distorted orbitofacial tissues and the restoration of orbital structures. The management of these patients is not standardized. We suggest systematically using a combined approach of surgery and lipofilling to restore the orbital deformity and dystrophy, respectively. For this purpose, we present the case of a 65-year-old woman with asymmetry of the orbital regions and severe lower eyelid cicatricial ectropion due to multiple radiation treatments in childhood for an extensive cavernous hemangioma of the right side of the face. We performed a reconstructive procedure using a tarsal strip technique in association with contralateral upper eyelid graft to correct the extensive retraction of the right lower eyelid and lid asymmetry. Subsequently, the patient underwent lipofilling to correct the post-radiotherapy dystrophy. Skin texture, softness, and elasticity greatly improved with further symmetrization. The combined treatment with surgery and lipofilling can significantly improve the functional and cosmetic outcome of shortened and dystrophic eyelids with a successful result with regard to post-radiotherapy retraction.

Idiopathic hypertrophic pachymeningitis: an autoimmune IgG4-related disease.

Hypertrophic pachymeningitis (HP) is a rare disorder that causes thickening of the dura mater. Inflammatory lesions may be located in the cerebral or spinal dura mater or, less frequently, in both locations simultaneously. Numerous clinico-pathological entities cause thickening of the pachymeninges. Indeed, HP is a potential manifestation of many different diseases, but the diagnosis often remains uncertain. Cases in which the pachymeningitis has no known aetiology are termed “idiopathic” HP (IHP). Recently, it has been suggested that IgG4-related disease represents a subset of cases previously diagnosed as idiopathic hypertrophic pachymeningitis. Little is known regarding the pathogenic events of IHP. In a general theory, the inflammatory infiltrate, mainly consisting of B and T lymphocytes, activates fibroblasts and induces collagen deposition, leading to tissue hypertrophy and increased dural thickness. Clinical manifestations of IHP depend upon the location of the inflammatory lesions and compression of the adjacent nervous structures. Three central pathological features are lymphoplasmacytic infiltration, obliterative phlebitis, and storiform fibrosis. MRI is the examination of choice for the preliminary diagnosis of IHP. Histopathological examination of a biopsy specimen of the dura mater would finally confirm the diagnosis. The differential diagnosis for HP is broad and includes infections, autoimmune disorders, and neoplasia. Currently, there is no consensus about treatment for patients with IHP. There is a preference for glucocorticoid treatment on diagnosis followed by the addition of other immunosuppressive agents in the event of a recurrence. Rituximab is used in patients who did not respond to glucocorticoids or to conventional steroid-sparing agents.

Emerging Concepts in Glaucoma and Review of the Literature

Glaucoma is the most commonly acquired optic neuropathy. It represents a public health challenge because it causes an irreversible blindness. Emerging evidence indicates that the pathogenesis of glaucoma depends on several interacting pathogenetic mechanisms, which include mechanical effects by an increased intraocular pressure, decreased neutrophine-supply, hypoxia, excitotoxicity, oxidative stress, and the involvement of autoimmune processes. In particular, alterations in serum antibody profiles have been described. However, it is still unclear whether the autoantibodies seen in glaucoma are an epiphenomenon or causative. Oxidative stress appears to be a critical factor in the neurodestructive consequences of mitochondrial dysfunction, glial activation response, and uncontrolled activity of the immune system during glaucomatous neurodegeneration. In addition, hearing loss has been identified in association with glaucoma. A higher prevalence of antiphosphatidylserine antibodies of the immunoglobulin G class was seen in normal-tension glaucoma patients with hearing loss in comparison with normal-tension glaucoma patients with normacusis. This finding suggests a similar pathological pathway as a sign for generalized disease.

Upper-Lip Augmentation by Graft of Preseptal Orbicularis Oculi Muscle Through Blepharoplasty

BackgroundUpper-lip augmentation is used to enhance a thin upper lip or correct lip deficiencies or senile hypotrophy. We describe an easy, effective, and reproducible technique.MethodsWe use two preseptal orbicularis oculi muscle grafts that provide a reliable option for soft-tissue upper-lip augmentation, with improved vertical lip height and lateral lip projection and reappearance of the Cupid’s bow. Muscle grafts are harvested from a blepharoplasty done at the same time.ResultsThe advantages of this procedure include the creation of an anatomically natural upper lip through preserving the continuity and function of the labial structure, good augmentation, no donor-site morbidity, no visible scars on the vermilion, and successful rejuvenation with the associated blepharoplasty.ConclusionBoth patients and surgeons were satisfied with the results because the muscle grafts produce a youthful appearance by adding natural, soft roundness and fullness to the upper lip without an artificial look or the use of synthetic material, providing long-term augmentation.